Canonical Allele Identifier: CA1226125406
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431624G= , CM000663.2:g.229431624G= GRCh38
NC_000001.10:g.229567371G= , CM000663.1:g.229567371G= GRCh37
NC_000001.9:g.227633994G= NCBI36
NG_006672.1:g.7473C= , LRG_429:g.7473C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-60C= ENSP00000355644.4:n.991-60C=
ENST00000684723.1:c.874C= ENSP00000508084.1:p.Arg292=
ENST00000366683.3:c.640C= ENSP00000355644.3:p.Arg214=
ENST00000366684.7:c.1009C= MANE Select ENSP00000355645.3:p.Arg337=
NM_001100.3:c.1009C= , LRG_429t1:c.1009C= NP_001091.1:p.Arg337=
NM_001100.4:c.1009C= MANE Select NP_001091.1:p.Arg337=